Canonical Allele Identifier: CA336270663

Gene: ARHGEF6

Linked Data

• ClinVar Variation Id: 506651
• ClinVar RCV Id: RCV000607598
• dbSNP Id: rs938254089
• gnomAD v2: X-135761756-T-G
• gnomAD v3: X-136679597-T-G
• gnomAD v4: X-136679597-T-G
• MyVariant Identifiers: chrX:g.135761756T>G (hg19) ; chrX:g.136679597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136679597T>G , CM000685.2:g.136679597T>G	GRCh38
NC_000023.10:g.135761756T>G , CM000685.1:g.135761756T>G	GRCh37
NC_000023.9:g.135589422T>G	NCBI36
NG_008873.1:g.106748A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250617.7:c.1768A>C MANE Select	ENSP00000250617.6:p.Ser590Arg
ENST00000250617.6:c.1768A>C	ENSP00000250617.6:p.Ser590Arg
ENST00000370620.5:c.1306A>C	ENSP00000359654.1:p.Ser436Arg
ENST00000370622.5:c.1306A>C	ENSP00000359656.1:p.Ser436Arg
NM_001306177.1:c.1306A>C	NP_001293106.1:p.Ser436Arg
NM_004840.2:c.1768A>C	NP_004831.1:p.Ser590Arg
XM_005262499.2:c.1704+1134A>C	XP_005262556.1:n.1704+1134A>C
XM_011531412.1:c.1849A>C	XP_011529714.1:p.Ser617Arg
XM_011531413.1:c.1780A>C	XP_011529715.1:p.Ser594Arg
XM_011531414.1:c.1780A>C	XP_011529716.1:p.Ser594Arg
XM_011531415.1:c.1678A>C	XP_011529717.1:p.Ser560Arg
XM_011531416.1:c.1387A>C	XP_011529718.1:p.Ser463Arg
XM_011531417.1:c.1318A>C	XP_011529719.1:p.Ser440Arg
XM_005262499.3:c.1704+1134A>C	XP_005262556.1:n.1704+1134A>C
XM_011531412.3:c.1849A>C	XP_011529714.1:p.Ser617Arg
XM_011531413.2:c.1780A>C	XP_011529715.1:p.Ser594Arg
XM_011531414.2:c.1780A>C	XP_011529716.1:p.Ser594Arg
XM_011531415.3:c.1678A>C	XP_011529717.1:p.Ser560Arg
XM_011531416.3:c.1387A>C	XP_011529718.1:p.Ser463Arg
XM_017029975.2:c.1861A>C	XP_016885464.1:p.Ser621Arg
NM_004840.3:c.1768A>C MANE Select	NP_004831.1:p.Ser590Arg
NM_001306177.2:c.1306A>C	NP_001293106.1:p.Ser436Arg